The limits of acceptable biological variation in elite athletes: should sex ambiguity be treated differently from other advantageous genetic traits?
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ABSTRACT:
SUBMITTER: Bostwick JM
PROVIDER: S-EPMC3538474 | biostudies-literature | 2012 Jun
REPOSITORIES: biostudies-literature
Publications
The limits of acceptable biological variation in elite athletes: should sex ambiguity be treated differently from other advantageous genetic traits?
Bostwick J Michael JM Joyner Michael J MJ
Mayo Clinic proceedings 20120601 6
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Project description:BackgroundGenetic variants may predispose humans to elevated risk of common metabolic morbidities such as obesity and Type 2 Diabetes (T2D). Some of these variants have also been shown to influence elite athletic performance and the response to exercise training. We compared the genotype distribution of five genetic Single Nucleotide Polymorphisms (SNPs) known to be associated with obesity and obesity co-morbidities (IGF2BP2 rs4402960, LPL rs320, LPL rs328, KCJN rs5219, and MTHFR rs1801133) between athletes (all male, n = 461; endurance athletes n = 254, sprint/power athletes n = 207), and controls (all male, n = 544) in Polish and Russian samples. We also examined the association between these SNPs and the athletes' competition level ('elite' and 'national' level). Genotypes were analysed by Single-Base Extension and Real-Time PCR. Multinomial logistic regression analyses were conducted to assess the association between genotypes and athletic status/competition level.ResultsIGF2BP2 rs4402960 and LPL rs320 were significantly associated with athletic status; sprint/power athletes were twice more likely to have the IGF2BP2 rs4402960 risk (T) allele compared to endurance athletes (OR = 2.11, 95% CI = 1.03-4.30, P <0.041), and non-athletic controls were significantly less likely to have the T allele compared to sprint/power athletes (OR = 0.62, 95% CI =0.43-0.89, P <0.0009). The control group was significantly more likely to have the LPL rs320 risk (G) allele compared to endurance athletes (OR = 1.26, 95% CI = 1.05-1.52, P <0.013). Hence, endurance athletes were the "protected" group being significantly (p < 0.05) less likely to have the risk allele compared to sprint/power athletes (IGF2BP2 rs4402960) and significantly (p < 0.05) less likely to have the risk allele compared to controls (LPL rs320). The other 3 SNPs did not show significant differences between the study groups.ConclusionsMale endurance athletes are less likely to have the metabolic risk alleles of IGF2BP2 rs4402960 and LPL rs320, compared to sprint/power athletes and controls, respectively. These results suggest that some SNPs across the human genome have a dual effect and may predispose endurance athletes to reduced risk of developing metabolic morbidities, whereas sprint/power athletes might be predisposed to elevated risk.
| S-EPMC4320608 | biostudies-literature
Project description:BACKGROUND:The purpose of this study was to evaluate the traits of orthorexia nervosa (ON) and its relation to body composition and anthropometric indices among elite athletes. METHODS:We studied 273 (125 female, 148 male) competitive athletes. ON was assessed with the self-administered ORTO-15 questionnaire. Total body composition was determined using dual-energy X-ray absorptiometry (DXA). RESULTS:The ORTO-15 score was independent of sex, type of effort or age. The ORTO-15 score was related to: total body mass (TBM) (p = 0.037; R = 0.170), body mass index (BMI) (p = 0.022; R = 0.187), bone mineral content (BMC) (p = 0.035; R = 0.172), lean soft tissue (p = 0.026; R = 0.182) and visceral adipose tissue (VAT) (p = 0.007; R = 0.255) in the male; BMI (p = 0.045; R = 0.412) and BMC (p = 0.012; R = 0.506) in weight-dependent male athletes. There was no relationship between ORTO-15 score and body composition in the total study group and subgroup of female athletes. In female athletes, ON tendencies were related to the weekly training time (p = 0.039), but in sprint and high-intensity intermittent efforts subgroup exclusively. CONCLUSIONS:Factors related to ON tendencies concerned exclusively BMI and body composition in male, and the weekly training time in female athletes. The results from this study demonstrate that a significant percentage of athletes, irrespective of sex, age, type of sport or hours of training per week, may manifest traits of orthorexia nervosa.
| S-EPMC7551559 | biostudies-literature
Project description:Whole genome sequencing (WGS) has great potential to explore all possible DNA variants associated with physical performance, psychological traits and health conditions of athletes. Here we present, for the first time, annotation of genomic variants of elite athletes, based on the WGS of 20 Tatar male wrestlers. The maximum number of high-quality variants per sample was over 3.8 M for single nucleotide polymorphisms (SNPs) and about 0.64 M for indels. The maximum number of nonsense mutations was 148 single nucleotide variants (SNVs) per individual. Athletes' genomes on average contained 18.9 nonsense SNPs in a homozygous state per sample, while non-athletes' exomes (Tatar controls, n = 19) contained 18 nonsense SNPs. Finally, we applied genomic data for the association analysis and used reaction time (RT) as an example. Out of 1884 known genome-wide significant SNPs related to RT, we identified four SNPs (KIF27 rs10125715, APC rs518013, TMEM229A rs7783359, LRRN3 rs80054135) associated with RT in wrestlers. The cumulative number of favourable alleles (KIF27 A, APC A, TMEM229A T, LRRN3 T) was significantly correlated with RT both in wrestlers (P = 0.0003) and an independent cohort (n = 43) of physically active subjects (P = 0.029). Furthermore, we found that the frequencies of the APC A (53.3 vs 44.0%, P = 0.033) and LRRN3 T (7.5 vs 2.8%, P = 0.009) alleles were significantly higher in elite athletes (n = 107) involved in sports with RT as an essential component of performance (combat sports, table tennis and volleyball) compared to less successful (n = 176) athletes. The LRRN3 T allele was also over-represented in elite athletes (7.5%) in comparison with 189 controls (2.9%, P = 0.009). In conclusion, we present the first WGS study of athletes showing that WGS can be applied in sport and exercise science.
| S-EPMC7433326 | biostudies-literature
Project description:Today, elite athletes form an important social group, and the non-sport facets of their lives matter as much as their sports performances. However, there has been little empirical research on the lifestyles of elite athletes. Therefore, this study aimed to develop knowledge about the Iranian elite athletes’ lifestyle. The study was conducted with a qualitative approach in two phases. Glaserian grounded theory was used in the first phase, and thematic analysis was used in the second phase. Participants of the first phase included 19 sports experts, such as sports sociologists, sports psychologists, and sports coaches, who were selected by purposive and snowball sampling methods for holding unstructured in-depth interviews. The data were simultaneously analyzed using a set of open, theoretical, selective coding and memos. The codes were grouped into three different categories with different natures. The emerged theory advanced our understanding of the lifestyle shaping structures of elite athletes, lifestyle indicators, and even professionalization of their lifestyles. According to the results, the Iranian elite athletes’ lifestyles include indicators, such as professional mindset, competencies, life vision, financial literacy, responsibility, consumption, leisure, personal issues, and religious behavior. Subjects of the second phase were 44 Iranian athletes in the national levels who participated voluntarily in the study. The data were analyzed by thematic analysis method, and lifestyles typologies were identified. Based on results, five dominant lifestyles among the Iranian elite athletes were identified: consumerist, easy going, socially useful, profit-oriented, and professional. Finally, the features of each lifestyle were discussed.
| S-EPMC9512170 | biostudies-literature
Project description:Health is a pre-requisite for optimal performance yet the parameters which govern health and performance of elite female athletes are little understood. The aim of this study was to quantify the health status of elite female athletes, and understand sociocultural factors influencing that status. The survey addressed demographic, health and athletic performance history, training load, contraceptive use, sport-specific appearance and performance pressures, and communication barriers. Three hundred and fifty-seven elite New Zealand female athletes were recruited to complete an on-line survey. Two hundred and nineteen athletes completed the survey. Oligomenorrhea/amenorrhea had been diagnosed in only 12% of athletes compared with 50% of athletes not on hormonal contraception who reported symptoms consistent with this diagnosis. Stress fractures and iron deficiency were common and associated with oligomenorrhoea/amenorrhea (P = 0.002), disordered eating (P = 0.009) or menorrhagia (P = 0.026). Athletes involved in individual sports (P = 0.047) and with higher training volumes (P < 0.001) were more likely to report a medical illness. Seventy-three percent of athletes felt pressured by their sport to alter their physical appearance to conform to gender ideals with 15% engaging in disordered eating practices. Barriers to communicating female health issues included male coaches and support staff, and lack of quality information pertaining to health. Elite female athletes may fail to reach peak performance due to specific health issues and undiagnosed pathology. Sociocultural factors influence the effectiveness of support of female's health and performance. Organizational and cultural change is required if elite female athletes are to combine optimal health with best performance.
| S-EPMC7932044 | biostudies-literature
Project description:Animal-attached devices have transformed our understanding of vertebrate ecology. To minimize any associated harm, researchers have long advocated that tag masses should not exceed 3% of carrier body mass. However, this ignores tag forces resulting from animal movement. Using data from collar-attached accelerometers on 10 diverse free-ranging terrestrial species from koalas to cheetahs, we detail a tag-based acceleration method to clarify acceptable tag mass limits. We quantify animal athleticism in terms of fractions of animal movement time devoted to different collar-recorded accelerations and convert those accelerations to forces (acceleration × tag mass) to allow derivation of any defined force limits for specified fractions of any animal's active time. Specifying that tags should exert forces that are less than 3% of the gravitational force exerted on the animal's body for 95% of the time led to corrected tag masses that should constitute between 1.6% and 2.98% of carrier mass, depending on athleticism. Strikingly, in four carnivore species encompassing two orders of magnitude in mass (ca 2-200 kg), forces exerted by '3%' tags were equivalent to 4-19% of carrier body mass during moving, with a maximum of 54% in a hunting cheetah. This fundamentally changes how acceptable tag mass limits should be determined by ethics bodies, irrespective of the force and time limits specified.
| S-EPMC8548787 | biostudies-literature
Project description:Energy efficiency is one of the fundamental athletic performance-affecting features of the cell and the organism as a whole. Mitochondrial DNA (mtDNA) variants and haplogroups have been linked to the successful practice of various sports, but despite numerous studies, understanding of the correlation is far from being comprehensive. In this study, the mtDNA sequence and copy number were determined for 99 outstanding Polish male athletes performing in power (n = 52) or endurance sports (n = 47) and 100 controls. The distribution of haplogroups, single nucleotide variant association, heteroplasmy, and mtDNA copy number were analyzed in the blood and saliva. We found no correlation between any haplogroup, single nucleotide variant, especially rare or non-synonymous ones, and athletic performance. Interestingly, heteroplasmy was less frequent in the study group, especially in endurance athletes. We observed a lower mtDNA copy number in both power and endurance athletes compared to controls. This could result from an inactivity of compensatory mechanisms activated by disadvantageous variants present in the general population and indicates a favorable genetic makeup of the athletes. The results emphasize a need for a more comprehensive analysis of the involvement of the mitochondrial genome in physical performance, combining nucleotide and copy number analysis in the context of nuclear gene variants.
| S-EPMC10454803 | biostudies-literature
Project description:The aim of this study was to retrospectively interpret body composition in various wheelchair athletes. In total, 69 athletes (mean ± standard deviation; age 33 ± 11 years; body mass 65.1 ± 14.8 kg; height 169.9 ± 14.9 cm and time since injury 19 ± 11 years) from different national teams in wheelchair sports underwent a dual X-ray absorptiometry (DXA) measurement during the yearly medical check-up. The data showed a significant difference between total fat and total fat-free mass between male (fat mass: 15.1 ± 7.6 kg; fat-free mass: 51.8 ± 9.3 kg) and female (fat mass: 19.4 ± 7.8 kg; fat-free mass: 36.8 ± 7.6 kg) athletes (p = 0.032, p < 0.001). In contrast, no significant difference (p = 0.16, p = 0.07) in fat and fat-free mass between paraplegic, tetraplegic and non-SCI athletes was found. Comparing different sports, the lowest fat mass was found in paracycling athletes whereas curling game players showed the highest total fat mass. Basketball game players showed the highest fat-free mass (fat-free mass: 54.8 ± 10.1 kg). In tetraplegic athletes, difference in fat-free mass between left and right arms correlated with the upper extremity motor score. For the interpretation of the data it seems to be crucial, that many different parameters (i.e., gender, motor level of the injury) are taken into consideration in wheelchair athletes.
| S-EPMC6987295 | biostudies-literature
Project description:Background:Previous studies shows that elite and high-level athletes possess consistently higher pain tolerance to ischemic and cold pain stimulation compared to recreationally active. However, the data previously obtained within this field is sparse and with low consistency. Purpose:The aim of the present study was to examine the difference in pain perception between elite and high-level endurance athletes (cross country skiers and runners), elite soccer players and non-athletes, as well to explore the impact of psychological factors on pain processing. Methods:Seventy one healthy volunteers (33 females and 38 males) participated in the study. Soccer players (n = 17), cross country skiers (n = 12), and long-distance runners (n = 3) formed the athlete group, with 39 non-athletes as controls. Big-five personality traits, fear of pain and Grit (perseverance and passion for long-term goals) were measured prior to induction of experimental pain. Pain threshold and intensity was induced by a PC-controlled heat thermode and measured by a computerized visual analog scale. Pain tolerance was measured by the cold pressor test (CPT). Results:Elite and high-level athletes had increased pain tolerance, higher heat pain thresholds, and reported lower pain intensity to thermal stimulation. Endurance athletes (cross country skiers and long-distance runners) had better tolerance for cold pain compared to both soccer-players and non-athletes. Furthermore, endurance athletes reported lower pain intensity compared to non-athletes, whereas both endurance athletes and soccer players had higher heat pain thresholds compared to non-athletes. Fear of Pain was the only psychological trait that had an impact on all pain measures. Conclusion:The present findings suggest that sports with long durations of physically intense activity, leveling aerobic capacity, are associated with increased ability to tolerate pain and that the amount of training hours has an impact on this tolerance. However, the small sample size implies that the results from this study should be interpreted with caution.
| S-EPMC7399202 | biostudies-literature
Project description:IntroductionElite and Olympian athletes are often stretching the upper limits of normal physiology and biomechanics of the musculoskeletal system in their efforts to excel in their sport. For them to get back to their sport at the same level after injury, the management, repair techniques, and rehabilitation protocols should be robust to permit healing of tissues to allow supra-normal loading and performance. The knee and the meniscus are commonly injured in these sports. Yet, the incidence, mechanisms, types of injuries to the meniscus, and their management are not known across different sports in the Olympics.MethodsWe set out to look into the incidence and the trends of publications on meniscal injuries of the knee in Olympic games. A search of the PubMed and Scopus for these injuries using a search strategy gave 79 and 116 articles, respectively.ResultsThere were very few publications giving the incidence of meniscal injuries in the Olympics. Football is the sport with the highest rate of meniscal injuries. Different sports are popular in different countries, and depending on the popularity and the country reporting these injuries, incidences differed. There was data available from India and Brazil for Elite athlete from diverse sports, whereas most data from other countries were for football and soccer. Knee was found to be the second most commonly injured part of the body in both Winter and Summer Olympics as well as the Youth Winter Olympics. Data were not available from the Youth Summer Olympics to make any conclusions. The number of publications on this topic is low. We presented the timeline of publications and citations of articles on this topic. The top country, language, journal, university, and author were USA, English, American Journal of Sports Medicine, Hospital of Special Surgery in New York and Brophy RH, respectively. The data on the risk factors for meniscal injuries were analyzed, discussed, and presented for football, as this was the most extensively studied sport.ConclusionsEven though the knee is one of the commonly injured anatomical locations in elite athletes, there is a lack of literature on meniscal injuries in this subset of population. We looked at possible reasons and made recommendations to improve data collection on these injuries.
| S-EPMC7205913 | biostudies-literature